Incidental Mutation 'R5831:Pck1'
ID 449298
Institutional Source Beutler Lab
Gene Symbol Pck1
Ensembl Gene ENSMUSG00000027513
Gene Name phosphoenolpyruvate carboxykinase 1, cytosolic
Synonyms Pck-1, PEPCK
MMRRC Submission 043220-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5831 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 172994866-173001067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 172998792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 350 (T350I)
Ref Sequence ENSEMBL: ENSMUSP00000029017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029017]
AlphaFold Q9Z2V4
Predicted Effect probably damaging
Transcript: ENSMUST00000029017
AA Change: T350I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029017
Gene: ENSMUSG00000027513
AA Change: T350I

DomainStartEndE-ValueType
Pfam:PEPCK 29 619 3.2e-275 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151269
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit early postnatal lethality, decreased body fat, decreased glycogen levels in the liver, and altered blood chemistry. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,517,777 (GRCm39) K4460* probably null Het
Adam21 A G 12: 81,605,875 (GRCm39) V629A probably benign Het
Adamts5 C T 16: 85,665,006 (GRCm39) V653I probably damaging Het
Adarb2 G A 13: 8,609,169 (GRCm39) A44T probably benign Het
Ank2 T C 3: 127,132,808 (GRCm39) probably benign Het
Arhgap21 T C 2: 20,868,024 (GRCm39) Y833C probably damaging Het
Brwd1 A G 16: 95,820,636 (GRCm39) S1297P probably damaging Het
Cdc25b G T 2: 131,029,301 (GRCm39) probably null Het
Ciart A T 3: 95,786,214 (GRCm39) V287D probably damaging Het
Csf2ra A G 19: 61,213,650 (GRCm39) F353S probably damaging Het
D630045J12Rik C T 6: 38,119,592 (GRCm39) E1717K possibly damaging Het
Dhcr24 A G 4: 106,421,611 (GRCm39) K82R probably benign Het
Dnah9 T A 11: 65,998,947 (GRCm39) T1034S probably benign Het
Dock6 T C 9: 21,714,332 (GRCm39) E1837G probably damaging Het
Eeig2 A T 3: 108,900,019 (GRCm39) S110T possibly damaging Het
Flg2 G A 3: 93,107,541 (GRCm39) V9I probably damaging Het
Hif1a A T 12: 73,988,918 (GRCm39) T602S probably benign Het
Hip1 T C 5: 135,440,117 (GRCm39) E1015G probably benign Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Irgq C A 7: 24,232,763 (GRCm39) F201L probably damaging Het
Isoc2b C A 7: 4,854,023 (GRCm39) L116F probably null Het
Loxl3 A T 6: 83,025,999 (GRCm39) T416S probably benign Het
Map3k13 A G 16: 21,746,798 (GRCm39) *960W probably null Het
Morn1 A G 4: 155,185,733 (GRCm39) H183R probably benign Het
Mrc1 A T 2: 14,313,523 (GRCm39) N918I probably damaging Het
Nfxl1 A G 5: 72,679,540 (GRCm39) V763A probably benign Het
Or11g1 A G 14: 50,651,439 (GRCm39) probably null Het
Or4c100 G A 2: 88,356,824 (GRCm39) W299* probably null Het
Papola A G 12: 105,789,859 (GRCm39) K482E probably benign Het
Peli2 G A 14: 48,405,727 (GRCm39) A51T probably damaging Het
Preb T C 5: 31,116,208 (GRCm39) H133R probably benign Het
Rpl36-ps4 T C 17: 88,228,685 (GRCm39) V73A probably benign Het
Scaf11 G A 15: 96,314,962 (GRCm39) P1240L probably benign Het
Selenom G T 11: 3,466,882 (GRCm39) E81* probably null Het
Serpinb1c T C 13: 33,081,081 (GRCm39) M1V probably null Het
Tanc1 T C 2: 59,615,685 (GRCm39) S231P possibly damaging Het
Trappc10 C T 10: 78,045,260 (GRCm39) R476Q probably damaging Het
Twf2 T A 9: 106,091,386 (GRCm39) D200E probably benign Het
Vmn1r17 T C 6: 57,337,999 (GRCm39) Y122C probably benign Het
Vmn2r71 G A 7: 85,272,922 (GRCm39) D579N probably benign Het
Vrtn A T 12: 84,695,349 (GRCm39) E33V probably damaging Het
Other mutations in Pck1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Pck1 APN 2 172,995,911 (GRCm39) critical splice donor site probably null
IGL00817:Pck1 APN 2 172,995,225 (GRCm39) missense possibly damaging 0.47
IGL02476:Pck1 APN 2 173,000,075 (GRCm39) missense probably benign
IGL02803:Pck1 APN 2 172,997,797 (GRCm39) missense probably damaging 1.00
IGL02874:Pck1 APN 2 172,997,042 (GRCm39) missense probably damaging 1.00
IGL02886:Pck1 APN 2 172,996,649 (GRCm39) missense probably benign 0.43
Limestone UTSW 2 173,000,353 (GRCm39) missense probably damaging 1.00
limpet UTSW 2 172,995,805 (GRCm39) missense probably damaging 0.99
R0041:Pck1 UTSW 2 172,997,003 (GRCm39) missense probably benign 0.21
R0125:Pck1 UTSW 2 172,997,874 (GRCm39) nonsense probably null
R0238:Pck1 UTSW 2 172,998,861 (GRCm39) missense possibly damaging 0.91
R0238:Pck1 UTSW 2 172,998,861 (GRCm39) missense possibly damaging 0.91
R0373:Pck1 UTSW 2 172,995,183 (GRCm39) start codon destroyed probably null 0.99
R0595:Pck1 UTSW 2 172,998,822 (GRCm39) missense probably damaging 1.00
R1338:Pck1 UTSW 2 173,000,203 (GRCm39) missense probably benign 0.18
R1623:Pck1 UTSW 2 172,996,511 (GRCm39) missense probably benign 0.26
R1752:Pck1 UTSW 2 172,998,906 (GRCm39) missense probably benign 0.00
R2107:Pck1 UTSW 2 172,995,861 (GRCm39) missense probably benign 0.00
R2376:Pck1 UTSW 2 172,998,909 (GRCm39) missense probably benign
R2883:Pck1 UTSW 2 173,000,368 (GRCm39) missense probably benign 0.03
R3508:Pck1 UTSW 2 173,000,177 (GRCm39) missense possibly damaging 0.61
R4718:Pck1 UTSW 2 172,997,014 (GRCm39) missense probably damaging 0.99
R4853:Pck1 UTSW 2 172,996,507 (GRCm39) nonsense probably null
R4907:Pck1 UTSW 2 172,998,816 (GRCm39) missense probably damaging 1.00
R4950:Pck1 UTSW 2 172,996,620 (GRCm39) missense probably benign
R5073:Pck1 UTSW 2 172,998,770 (GRCm39) missense probably benign 0.41
R5134:Pck1 UTSW 2 172,995,282 (GRCm39) missense probably benign 0.23
R5213:Pck1 UTSW 2 172,997,878 (GRCm39) nonsense probably null
R5244:Pck1 UTSW 2 172,996,656 (GRCm39) missense possibly damaging 0.91
R5654:Pck1 UTSW 2 173,000,353 (GRCm39) missense probably damaging 1.00
R6030:Pck1 UTSW 2 172,996,650 (GRCm39) missense probably benign 0.40
R6030:Pck1 UTSW 2 172,996,650 (GRCm39) missense probably benign 0.40
R6143:Pck1 UTSW 2 172,995,805 (GRCm39) missense probably damaging 0.99
R6276:Pck1 UTSW 2 172,999,112 (GRCm39) missense probably damaging 1.00
R7553:Pck1 UTSW 2 172,998,860 (GRCm39) missense probably benign 0.13
R7860:Pck1 UTSW 2 172,997,743 (GRCm39) missense possibly damaging 0.80
R8076:Pck1 UTSW 2 172,997,071 (GRCm39) missense probably damaging 1.00
R8187:Pck1 UTSW 2 172,997,033 (GRCm39) missense probably benign 0.23
R8523:Pck1 UTSW 2 172,999,064 (GRCm39) missense probably damaging 1.00
R8729:Pck1 UTSW 2 172,997,866 (GRCm39) missense probably damaging 1.00
R8982:Pck1 UTSW 2 172,999,112 (GRCm39) missense probably damaging 1.00
R9124:Pck1 UTSW 2 172,997,018 (GRCm39) missense probably benign 0.01
R9245:Pck1 UTSW 2 172,996,569 (GRCm39) missense probably damaging 1.00
R9520:Pck1 UTSW 2 172,997,854 (GRCm39) missense probably damaging 1.00
R9705:Pck1 UTSW 2 173,000,170 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- ACTTTAGGACATGAGCTAGCC -3'
(R):5'- ATGGTTCCGCTGCAAGAGAG -3'

Sequencing Primer
(F):5'- CCTGGCAAAGCTTTAAGAACTCTGG -3'
(R):5'- GAGAGATACCCCTTAGCATGGC -3'
Posted On 2016-12-20